A5092419245- Neonatal Respiratory Health Research
- Birth, Development, and Health
- Congenital Heart Disease Studies
- Congenital heart defects research
- Infant Nutrition and Health
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Genomics and Rare Diseases
- Electrolyte and hormonal disorders
- Respiratory Support and Mechanisms
Northwestern University
2023-2024
Rapid genome sequencing (rGS) has been shown to improve care of critically ill infants. Congenital heart disease (CHD) is a leading cause infant mortality and often caused by genetic disorders, yet the utility rGS not prospectively studied in this population.We conducted prospective evaluation infants with complex CHD our cardiac neonatal intensive unit.In cohort 48 CHD, diagnosed 14 disorders 13 (27%) individuals led changes clinical management 8 (62%) cases diagnostic results. These...
Abstract Objective GREB1L has been linked prenatally to Potter's sequence, as well less severe anomalies of the kidney, uterus, inner ear, and heart. The full phenotypic spectrum is unknown. purpose this study was characterize known novel pre‐ postnatal phenotypes associated with . Methods We solicited cases from Fetal Sequencing Consortium, screened a population‐based genomic database, conducted comprehensive literature search identify disease present detailed molecular changes. Results One...
Preterm infants (<34 weeks' gestation) experience high rates of morbidity and mortality before hospital discharge. Genetic disorders substantially contribute to in related populations. The prevalence clinical impact genetic is unknown this population. We sought determine the commonly diagnosed preterm infants, association with mortality.This was a retrospective multicenter cohort study born from 23 33 gestation between 2000 2020. were abstracted diagnoses present electronic health records....
Preterm infants born small, vs. appropriate for gestational age (SGA, AGA) are at greater risk morbidity and mortality. The contribution of genetic disorders to preterm SGA birth, morbidity, mortality is unknown. We sought determine the association between or within infants. hypothesized that were significantly associated with both.This was a retrospective multicenter cohort study 409 339 infants, 23-33 weeks' gestation 2000 2020. odds (vs severe determined disorders, after adjusting known...